Genetic profiling of thymic carcinoma using targeted next-generation sequencing

2014 Fiscal Year Final Research Report

• Project/Area Number: 25861246
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Respiratory surgery
• Research Institution: Nagoya City University
• Principal Investigator: SHITARA Masayuki 名古屋市立大学, 医学(系)研究科(研究院), 研究員 (60595643)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 胸腺癌 / 縦隔腫瘍 / 遺伝子変異 / 次世代シーケンス / ターゲットシーケンス

Outline of Final Research Achievements

Thymic carcinoma is a rare mediastinal neoplasm and little is known about its tumorigenesis. There is no effective treatment except for complete resection, and the prognosis of advanced cases is poor. To identify the mutations associated with tumorigenesis, we analyzed genetic profile of thymic carcinoma using targeted Next-Generation Sequencing. We sequenced about 409 cancer related genes in 12 thymic squamous cell carcinoma tissues including 10 tumor / normal tissue pairs using Ion AmpliSeq Cancer Panel and Ion PGM Sequencer. We filtered the mutations with Ingenuity Variant Analysis, SIFT, PolyPhen-2, and PROVEAN. Twenty five candidate mutations in 24 genes were identified, including six tyrosine kinase genes (KIT, DDR2, PDGFRA, ROS1, IGF1R). There was no recurrent mutation among the samples studied. The mutation status of thymic squamous cell carcinoma is highly heterogeneous.

Free Research Field

呼吸器外科